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Biomedical subjects

G Neri

Publications and source records attributed to G Neri.

At least 217 records · Page 12Linked to original sources
PubMed1993

Mapping of a gene for non-specific X linked mental retardation: evidence for linkage to chromosomal region Xp21.1-Xp22.3.

Linkage analysis of a non-specific form of X linked mental retardation (MRX) was performed with 16 polymorphic markers spanning the entire X chromosome in a three generation Italian family, including four male patients with moderate mental retardation. One obligate carrier woman had mild mental retardation and another two had normal intelligence. The results indicate tight linkage to DNA markers DXS84 (L754), DXS164 (pERT87-15), and DXS278 (CRI-S232). A maximum lod score of 2.11 at theta = 0.00 was obtained with DXS164 and DXS278. The linked region spanned chromosomal bands Xp21.1-Xp22.3, that is, the same portion of the X chromosome where MRX2 and MRX10-13 have been previously localised.

Adolescent↗
PubMed1993

Thyrotropin-releasing hormone inhibits glucocorticoid secretion of rat adrenal cortex: in vivo and in vitro studies.

The bolus iv administration of TRH dose-dependently decreased ACTH-enhanced plasma corticosterone (B) concentration in rats, without affecting the basal one. The effects of TRH on steroid secretion of dispersed rat inner adrenocortical cells were investigated by HPLC. TRH significantly decreased both basal and ACTH-stimulated post-11-deoxycorticosterone (DOC) secretion (i.e. 18-hydroxy-DOC and B) and concomitantly raised DOC and progesterone release, so that the total postpregnenolone yield of our preparations was unaffected. TRH did not alter either basal or ACTH-stimulated pregnenolone production by isolated rat adrenocortical cells. It was concluded that TRH is an inhibitor of glucocorticoid secretion in rats, which electively impairs the late steps of B synthesis (i.e. 11- and 18-hydroxylation) without affecting the earlier steps, including the rate-limiting one of this process.

18-Hydroxydesoxycorticosterone↗
PubMed1993

[Multiple primary malignant tumors of the larynx and lung].

The association of laryngeal and pulmonary neoplasms is one of the most frequent among multiple primary malignant tumors and represents an important problem in terms of prevention and diagnosis. The present study involves 22 cases of associated tumors observed from January 1st 1977 and December 31st 1992. All the patients involved were male, average age 62 years, who had been treated for laryngeal cancers, mostly laryngeal epidermoid carcinoma. Pulmonary cancers (simultaneous, synchronous, metachronous) were diagnosed in all these subjects and one patient presented 2 autonomous bronchial lesions which arose in different periods. Five patients out of 22 (23%) are still alive and with no evidence of disease (NED), 2 more patients are alive although not disease-free. After reporting some considerations regarding the neoplastic association involving the larynx and the lung as well as the increased risk of pulmonary neoplasm in those patients treated for supraglottic lesions, the authors emphasize the importance of personal and family history for cancer and suggest a classification of the risk to develop a second malignancy in these patients.

Adenocarcinoma↗
PubMed1992

Further delineation of the Simpson-Golabi-Behmel (SGB) syndrome.

The Simpson-Golabi-Behmel syndrome is an X-linked condition characterized by pre- and postnatal overgrowth, "coarse" face, postaxial polydactyly, midline defects, and psychomotor development ranging from normal to mildly retarded. We report on an additional sporadic patient with novel manifestations, contributing to a more thorough delineation of this syndrome.

Abnormalities, Multiple↗
PubMed1992

Possible new type of oral-facial-digital syndrome with retinal abnormalities: OFDS type (VIII)

The most recent classification of the oral-facial-digital syndromes (OFDS) includes 7 types distinguishable by different clinical signs. We describe 2 brothers presenting oral, facial, and digital anomalies and an additional manifestation consisting of specific retinal abnormalities, i.e., retinochoroideal lacunae of colobomatous origin. Our patients may be affected with a new type of OFDS, i.e., OFDS type VIII, characterized by eye abnormalities in addition to other manifestations that partially overlap with those of OFDS type II. Given that there are 2 affected brothers, we cannot distinguish between autosomal and X-linked recessive inheritance.

Adult↗
PubMed1992

The effects of ageing on the morphology and function of the zonae fasciculata and reticularis of the rat adrenal cortex.

The morphological counterpart of the well-known age-dependent marked impairment of glucocorticoid secretion of rat adrenals was investigated by use of morphometric techniques. For this purpose 4-, 8-, 16- and 24-month-old rats were studied. Despite the notable lowering of both basal and ACTH-stimulated production of corticosterone by collagenase-dispersed inner adrenocortical cells, ACTH and corticosterone plasma concentrations displayed significant increases with ageing. Zona fasciculata (ZF) and zona reticularis (ZR) showed a notable hypertrophy in aged rats, which was due to rises in both the average volume and number of their parenchymal cells. The hypertrophy of ZF and ZR cells was in turn associated with increase in the volume of the mitochondrial compartment and proliferation of smooth endoplasmic reticulum, i.e., the two organelles involved in steroid-hormone synthesis. All these morphologic changes, conceivably due to the chronic exposure to high levels of circulating ACTH, are interpreted as a response enabling ZF and ZR to compensate for their age-dependent lowering in glucocorticoid secretion. Stereology also demonstrated that ZF and ZR cells underwent a striking age-related lipid-droplet repletion. Lipid droplets are the intracellular stores of cholesterol esters, the obligate precursors of steroid hormones in rats. This finding is in keeping with the contention that the mechanism underlying the age-dependent decline in rat-adrenal glucocorticoid secretion mainly involves impairments of the utilization of intracellular cholesterol previous to its intramitochondrial transformation to pregnenolone.

Adrenocorticotropic Hormone↗
PubMed1992

Effects of interleukin-1 beta on the renin-angiotensin-aldosterone system in rats.

A bolus IP injection of interleukin-1 beta (IL-1 beta) (8 micrograms.kg-1) increased blood pressure and PRA without affecting plasma aldosterone (ALDO) concentration. IL-1 beta strongly attenuated angiotensin-II (ANG-II, 10(-8) M)-stimulated ALDO secretion by both isolated zona glomerulosa (ZG) cells and capsular strips. These findings suggest that IL-1 beta exerts a twofold opposite action on the main components of the rat renin-angiotensin-aldosterone system: simultaneous stimulation of renin release by kidneys and inhibition of the stimulatory effect of ANG-II on ALDO production. At the highest concentrations (10(-6)/10(-5) M), IL-1 beta was found to lower also basal ALDO output by isolated ZG cells, but not by capsular strips. However, in the presence of saralasin 10(-8) M (a competitive inhibitor of ANG-II) and captopril 10(-8) M (an angiotensin-I-converting enzyme inhibitor), IL-1 beta significantly reduced basal ALDO yield of capsular strips. These last results would suggest that IL-1 beta could also similarly affect the intra-adrenal renin-angiotensin system, which seems to be involved in the local regulation of ZG secretory activity.

Adrenal Glands↗
PubMed1992

Dosage analysis at the CSF1 and CSF1R loci in a new case of partial trisomy 5q.

We report on a new case of trisomy for the distal portion of chromosome 5q, arising from a maternal balanced translocation, t(5;22)(q33;q13). The patient presented with mental retardation and peculiar craniofacial anomalies, similar to those already described in trisomy 5q3. Overall, the phenotype bore some resemblance to that of the Brachmann-De Lange syndrome. The extent of the duplicated region was investigated through a combined molecular-cytogenetic approach, using 5q probes for gene dosage analysis by Southern blot, which allowed confirmation of breakpoint assignment to band 5q33. Since most manifestations of trisomy 5q3 are observed in patients with duplications spanning 5q34-qter, it seems that the critical sequences involved in phenotype determination lie within this very distal segment.

Adolescent↗
PubMed1992

An additional patient with the 3C syndrome.

We report on an 8-month-old child with a dolichocephalic head due to prominent forehead and occiput. Dandy-Walker malformation, cleft palate, congenital heart defect and other minor anomalies. He represents a new case of the 3C syndrome, the fifth described in the medical literature.

Abnormalities, Multiple↗
PubMed1992

Direct secretagogue effect of corticotropin-releasing factor on the rat adrenal cortex: the involvement of the zona medullaris.

CRF dose-dependently enhanced corticosterone (B) secretion by rat adrenal slices including both cortex and medulla. Conversely, CRF did not exert any B response by fragments of adrenocortical autotransplants, which are completely deprived of chromaffin tissue. However, autotransplant quarters exhibited a dose-dependent response to ACTH qualitatively similar to that of adrenal slices, although markedly less intense. The maximal B response of adrenal slices to CRF (10(-8) M) was completely annulled by corticotropin-inhibiting peptide (10(-6) M), a competitive inhibitor of ACTH, which totally blocked the secretory response to ACTH (10(-8) M) of both kinds of preparations. ACTH immunoreactivity was present in the adrenal gland of control rats, but was undetectable in autotransplanted adrenocortical nodules. Moreover, adrenal fragments mainly composed of chromaffin tissue released detectable amounts of ACTH in response to high concentrations of CRF (10(-8)/10(-6) M). These findings suggest that chromaffin medullary cells play a pivotal role in the direct adrenocortical secretagogue effect of CRF, probably by releasing ACTH, which, in turn, may evoke, in a paracrine manner, the glucocorticoid response.

Adrenal Cortex↗
PubMed1992

[Interpretation of laboratory data related to the determination of tumor markers].

The Authors consider the quantity of CEA-AFP-MCA-CA 125 measurements performed by their laboratory during ten months in 1989-90: 1.000 for CEA, 500 for AFP, 52 for MCA, 36 for CA 125. The observation of scarce significance (especially for CEA and AFP) has, in this case, only a statistical sense, depending on the unknown motivation of the analysis requests. They also observe greater significance of MCA and CA 125 measurements, and they underline the necessity to correlate requests, clinical situations and results, according on their peculiar purpose: to verify the reliability of the demands in order to value the validity of the markers, avoiding useless and not specific data for a better monitoring of the neoplastic patient.

Antigens, Neoplasm↗
PubMed1992

[The pre- and postoperative and follow-up use of the tumor markers MCA, CA-125 and CA-19-9].

The paper describes the authors' personal experience of the use of tumour markers, above all during postoperative follow-up as well as during the evaluation of the response to adjuvant and other forms of chemotherapy. The authors affirm that the use of these markers is fundamental for a correct evaluation and rapid treatment, above all in the identification and treatment of recidivation.

Antigens, Neoplasm↗
PubMed1991

The Noonan-CFC controversy.

The Noonan syndrome and the cardio-faciocutaneous (CFC) syndrome have been described as phenotypically and genetically distinct entities. However, the resemblance between them led some authors to question the validity of this separation. We review available clinical evidence to support the opposite view, namely, that the Noonan and CFC syndromes are indeed distinct and separate conditions, both falling within the broad and causally heterogeneous spectrum of the Noonan/congenital lymphedema phenotype.

Abnormalities, Multiple↗
PubMed1991

Effects of prolonged sodium restriction on the morphology and function of rat adrenocortical autotransplants.

Regenerated adrenocortical nodules were obtained by implanting fragments of the capsular tissue of excised adrenal glands into the musculus gracilis of rats (Belloni et al. 1990). Five months after the operation, operated rats showed a normal basal blood level of corticosterone, but a very low concentration of circulating aldosterone associated with a slightly increased plasma renin activity (PRA). Regenerated nodules were well encapsulated and some septa extended into the parenchyma from the connective-tissue capsule. The majority of parenchymal cells were similar to those of the zonae fasciculata and reticularis of the normal adrenal gland, while zona glomerulosa-like cells were exclusively located around septa (juxta-septal zone; JZ). In vitro studies demonstrated that nodules were functioning as far as glucocorticoid production was concerned, while mineralocorticoid yield was very low. Prolonged sodium restriction significantly increased PRA and plasma aldosterone concentration, and provoked a marked hypertrophy of JZ, which was due to increases in both the number and average volume of JZ cells. Accordingly, the in vitro basal production of aldosterone and other 18-hydroxylated steroids was notably enhanced. The plasma level of corticosterone, as well as zona fasciculata/reticularis-like cells and in vitro production of glucocorticoids by regenerated nodules were not affected. These findings, indicating that autotransplanted adrenocortical nodules respond to a prolonged sodium restriction similar to the normal adrenal glands, suggest that the relative deficit in mineralocorticoid production is not due to an intrinsic defect of the zona glomerulosa-like JZ, but is probably caused by the impairment of its adequate stimulation under basal conditions.(ABSTRACT TRUNCATED AT 250 WORDS)

18-Hydroxydesoxycorticosterone↗
PubMed1991

Comparison of ACTH and corticotropin-releasing hormone effects on rat adrenal steroidogenesis in vitro.

The effects of equimolar concentrations (10(-9) M) of ACTH and corticotropin-releasing hormone (CRH) on the secretory activity of zona glomerulosa (ZG) and zonae fasciculata and reticularis (ZF/ZR) of rat adrenals were investigated in vitro by high-pressure liquid chromatography. ACTH enhanced the output of all the post-progesterone steroids (11-deoxycorticosterone, 18-hydroxy-11-deoxycorticosterone, corticosterone, 18-hydroxycorticosterone, and aldosterone) both by isolated ZG or ZF/ZR cells and by adrenal slices. CRH raised the secretory activity exclusively of adrenal slices, and its effect was less than half that of ACTH. However, the extents to which the various post-progesterone hormones contributed to the ACTH- or CRH-induced rises in the overall adrenal secretory activity were similar. The hypothesis is discussed that CRH acts on the rat adrenal gland by eliciting a local production of ACTH.

Adrenal Cortex↗